A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048741



Internal ID19137960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129006365..129026645hg38UCSC Ensembl
Innerchr12:129490910..129511190hg19UCSC Ensembl
Innerchr12:128056863..128077143hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3820281
hg1920281
hg1820281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1577n100
Supporting Variantsnssv3526184
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048741
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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